Q4Q (p.Gln4Gln) variant of OPTN (Optineurin)
Q4Q (p.Gln4Gln) in OPTN (Optineurin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and published literature.
Q4Q (p.Gln4Gln) variant details
- p.Gln4Gln
- gnomAD 10-13109134-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.151
- CADD 9.94
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available